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Article

Mendelian Puzzles

23 Feb 2012

Abstract excerpt

Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

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Share to Congenital gastrointestinal and neural anomalies
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Identifiers

PMID: 22362999
DOI: 10.1126/science.1219301

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